Generation of two iPSC lines (KAUSTi001-A, KAUSTi002-A) from a rare high-grade Klinefelter Syndrome patient (49-XXXXY) carrying a balanced translocation t(4,11) (q35,q23).

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Type
Article
Authors
Alowaysi, Maryam
Fiacco, Elisabetta
Astro, Veronica
Adamo, Antonio cc
KAUST Department
Bioscience Program
Biological and Environmental Sciences and Engineering (BESE) Division
KAUST Grant Number
BAS 1077-01-01
Date
2020-11-30
Submitted Date
2020-08-10
Permanent link to this record
http://hdl.handle.net/10754/666217

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Abstract
Klinefelter Syndrome (KS) is the most common aneuploidy in humans (prevalence: 85-250 per 100,000 born males) and is characterized by one or more supernumerary X-chromosomes (47-XXY, 48-XXXY and 49-XXXXY karyotypes). KS is a multisystemic disorder associated to multiple phenotypic features including cardiac abnormalities, infertility, mental retardation, diabetes and increased cancer risk. Using a non-integrative mRNAs reprogramming approach, we generated two iPSC lines 48-XXXY and 49-XXXXY from a non-mosaic 49-XXXXY KS patient carrying a balanced translocation t(4,11) (q35,q23). These iPSC lines provide a unique cellular platform to study the molecular mechanisms underlying KS pathophysiology.
Citation
Alowaysi, M., Fiacco, E., Astro, V., & Adamo, A. (2020). Generation of two iPSC lines (KAUSTi001-A, KAUSTi002-A) from a rare high-grade Klinefelter Syndrome patient (49-XXXXY) carrying a balanced translocation t(4,11) (q35,q23). Stem Cell Research, 49, 102098. doi:10.1016/j.scr.2020.102098
Sponsors
This work was funded by KAUST baseline (Grant number BAS 1077-01-01) to A.A. and King Abdulaziz City for Science and Technology (KACST) (Grant number RGC/3/3628-01) to M.A. and A.A. The following cell line was obtained from NIGMS Human Genetic Cell Repositories: GM00157. We also acknowledge WiCell as the original source of the WA16 hESC line.
Publisher
Elsevier BV
Journal
Stem cell research
DOI
10.1016/j.scr.2020.102098
PubMed ID
33254093
Additional Links
https://linkinghub.elsevier.com/retrieve/pii/S1873506120303998
Collections
Articles; Biological and Environmental Science and Engineering (BESE) Division; Bioscience Program
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Except where otherwise noted, this item's license is described as This is an open access article under the CC BY-NC-ND license.